Canonical Allele Identifier: CA2575971702

Gene: PHKG2

Linked Data

• ClinVar Variation Id: 2797667
• ClinVar RCV Id: RCV003627645
• gnomAD v4: 16-30756169-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30756169C>T , CM000678.2:g.30756169C>T	GRCh38
NC_000016.9:g.30767490C>T , CM000678.1:g.30767490C>T	GRCh37
NC_000016.8:g.30674991C>T	NCBI36
NG_016616.1:g.12871C>T
NG_016616.2:g.12871C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.557-13C>T MANE Select	ENSP00000455607.1:n.557-13C>T
ENST00000328273.11:c.557-13C>T	ENSP00000329968.7:n.557-13C>T
ENST00000424889.7:c.557-13C>T	ENSP00000388571.3:n.557-13C>T
ENST00000563588.5:c.557-13C>T	ENSP00000455607.1:n.557-13C>T
ENST00000563913.5:n.890-13C>T
ENST00000564838.5:n.931-421C>T
ENST00000565897.5:c.557-13C>T	ENSP00000457359.1:n.557-13C>T
ENST00000565924.5:c.557-13C>T	ENSP00000455091.1:n.557-13C>T
ENST00000569684.1:n.969-13C>T
NM_000294.2:c.557-13C>T	NP_000285.1:n.557-13C>T
NM_001172432.1:c.557-13C>T	NP_001165903.1:n.557-13C>T
NM_000294.3:c.557-13C>T MANE Select	NP_000285.1:n.557-13C>T
NM_001172432.2:c.557-13C>T	NP_001165903.1:n.557-13C>T